How Do You Spell CANAVAN DISEASE?

Pronunciation: [kˈanɐvˌan dɪzˈiːz] (IPA)

Canavan Disease, also known as Canavan-Van Bogaert-Bertrand Disease, is a genetic disorder that affects the breakdown and processing of certain amino acids in the brain. The correct spelling of the word is [kəˈnævən dɪˈziːz], with the stress on the second syllable. The "a" in "Canavan" is pronounced as the "a" in "cat", while the "e" in "disease" is pronounced as the "i" in "bit". Canavan Disease is caused by mutations in the ASPA gene, which leads to the progressive degeneration of the white matter in the brain.

CANAVAN DISEASE Meaning and Definition

1. Canavan Disease, also known as Canavan-Van Bogaert-Bertrand Disease or Aspartoacylase Deficiency, is a rare and progressively degenerative genetic disorder that affects the central nervous system. It is an autosomal recessive disorder caused by a mutation in the ASPA gene, which is responsible for producing the enzyme aspartoacylase.

   This devastating disease primarily affects infants and manifests in the first few months of life. It is characterized by the improper myelination, or white matter formation, in the brain. Myelin is a fatty substance that surrounds nerve fibers and plays a crucial role in their proper functioning. In individuals with Canavan Disease, the lack of functional aspartoacylase enzyme leads to an accumulation of a compound called N-acetylaspartate (NAA) within brain cells, resulting in severe progressive demyelination.

   The symptoms of Canavan Disease include profoundly impaired muscle tone, lack of motor development, feeding difficulties, abnormal visual tracking, seizures, and intellectual disability. As the disease progresses, affected individuals may lose the ability to swallow, smile, sit, and communicate. Unfortunately, there is currently no cure for Canavan Disease, and treatment options mainly focus on managing the symptoms and improving the quality of life for affected individuals through supportive therapies such as physical and occupational therapy, medications to control seizures, and dietary modifications.

   Given its genetic nature, Canavan Disease typically runs in families with a higher prevalence among Ashkenazi Jewish populations. Genetic counseling and carrier screening can aid in identifying couples at risk of having a child with Canavan Disease and provide information to help them make informed reproductive decisions.

Common Misspellings for CANAVAN DISEASE

• xanavan disease
• vanavan disease
• fanavan disease
• danavan disease
• cznavan disease
• csnavan disease
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• cabavan disease
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• canzvan disease
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• canwvan disease
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• canacan disease
• canaban disease
• canagan disease
• canafan disease

Etymology of CANAVAN DISEASE

The word "Canavan" in Canavan Disease is named after Myrtelle Canavan, an American pediatric neurologist who first described the condition in 1931. Canavan Disease is a rare genetic disorder characterized by the degeneration of the white matter in the brain. It is sometimes referred to as Canavan-Van Bogaert-Bertrand syndrome, acknowledging other neurologists who made significant contributions to the understanding of the disease.